Adolescents with Friedreich’s ataxia (FA) are now being dosed with nomlabofusp as part of a placebo-controlled Phase 1 clinical study that’s testing Larimar Therapeutics‘ subcutaneous, or under-the-skin, injection therapy. Data from the Phase 1 study, and from other clinical testing of nomlabofusp, are expected by the middle…
Note: This story was updated Dec. 19, 2024, to clarify that the BOLD study does include measures of efficacy. Since its 2023 launch as the first and — to date — only approved treatment for Friedreich’s ataxia in the U.S., Skyclarys (omaveloxolone) has benefited most patients by either…
Male mouse models of Friedreich’s ataxia (FA) in a study showed worse heart function than females, with weaker heart pumping and a larger left ventricle, the heart’s main pumping chamber. The differences are relevant as these mice are widely used for preclinical testing of new treatments for the disease. Researchers…
A recent mouse model of Friedreich’s ataxia (FA), called YG8-800, better mimics the disease’s symptoms and mechanisms in people than earlier models, making it a useful tool for testing treatments aiming to slow or stop disease progression, a study reports. Specially, YG8-800 mice carry a mutation that causes repeats…
A brain pathway that connects the cerebellum to the motor cortex, helping coordinate and control movement by sending important signals between these two areas, is damaged in Friedreich’s ataxia (FA). In an imaging study, researchers observed that the dentato-thalamo-cortical tract (DTT) is most damaged near the cerebellum at the…
Diazoxide, a medication used to treat high blood pressure, protected cells — isolated from a person with Friedreich’s ataxia (FA) — against cellular damage caused by oxidative stress, suggesting it could be repurposed to treat the disease. Because diazoxide can’t make it to the brain, which is affected by…
The use of high-resolution ultrasound in people with Friedreich’s ataxia revealed nerve changes in the armpits and arms that correlated with disease severity in a small study by researchers in Italy. These results suggest that such ultrasounds of the nerves running through the axilla region — the armpits —…
The first patient has been dosed in a long-term, open-label extension (OLE) of a Phase 2 dose escalation study that tested nomlabofusp, formerly CTI-1601, an investigational therapy being developed by Larimar Therapeutics for Friedreich’s ataxia (FA). The OLE study is open to patients who took part in…
A small molecule called honokiol was seen to restore the function of mitochondria, the small structures producing energy in cells, and to reduce the number of harmful oxygen-containing molecules in a study that used a cell model of Friedreich’s ataxia (FA). Honokiol, like resveratrol, is a naturally occurring…
A yet unreported mutation that involves the loss of a large piece of the FXN gene, which is linked to Friedreich’s ataxia (FA), was identified in a man with typical symptoms of the disease, according to a report from Spain. “With this case, we want to raise awareness about…
Microglia, the brain’s resident immune cells, may go awry in Friedreich’s ataxia (FA) and contribute to lasting inflammation in the brain, possibly playing a part in nerve cell degeneration, according to a new study in a mouse model of the disease. “This work is the first to provide multilayer…
Coenzyme Q10 (CoQ10), an antioxidant that occurs naturally in the body and is found in some foods, may help to treat Friedreich’s ataxia and other neurological diseases, according to a review article. The review, “Involvement of Coenzyme Q10 in Various Neurodegenerative and Psychiatric Diseases,” was published in…
Three researchers in the U.S. have each been awarded a grant from the Friedreich’s Ataxia Research Alliance (FARA) to explore new strategies for treating Friedreich’s ataxia (FA), the nonprofit announced on its scientific news page. The newest FARA grant recipients are three professors from across the U.S.
CTI-1601, an experimental therapy by Larimar Therapeutics, is generally well tolerated by people with Friedreich’s ataxia (FA) and increases the levels of frataxin, a protein they’re missing, in their skin and mouth (buccal) cells after two weeks. That’s according to top-line data from the first group of patients…
People with Friedreich’s ataxia (FA) who also have diabetes, a condition that causes their blood glucose (sugar) level to become too high, are more likely than those who don’t have diabetes to have worse outcomes from COVID-19, according to a single-center study. Having diabetes increased both the chance of…
A four-week Phase 2 clinical trial that’ll be testing CTI-1601, Larimar Therapeutics’ experimental therapy for Friedreich’s ataxia (FA), is now enrolling in the U.S., the company announced in a press release. Patient recruitment began shortly after the U.S. Food and Drug Administration (FDA) lifted its full hold…
The Phase 1 clinical program of DT-216, Design Therapeutics’ experimental therapy for Friedreich’s ataxia (FA), remains on track, with initial data expected by year’s end. The program includes a single-ascending dose Phase 1a trial (NCT05285540) and a multiple-ascending dose Phase 1b study (NCT05573698), both testing the…
Some proteins in the cerebrospinal fluid (CSF) — the fluid that flows around the brain and spinal cord — are present in unusual amounts in patients with Friedreich’s ataxia, and may be candidate biomarkers for diagnosis, a small study suggests. Researchers found that the proteins are involved in how…
Some molecules involved in metabolism — all daily operations run by cells — are found in different amounts in patients with Friedreich’s ataxia (FA) versus healthy individuals and may be used as both diagnostic biomarkers and therapeutic targets, a small study suggests. The study, “Metabolomics analysis reveals dysregulation…
DNA repeats in the gene that codes for frataxin — a protein that’s not made enough in Friedreich’s ataxia — act as a molecular “stop sign” that results in no working protein being made, a study in lab-grown cells found. Researchers were able to offset the “stop sign” and…
Children and adults with Friedreich’s ataxia (FA) have lower lean body mass — simply put, the weight of everything in the body except fat — than healthy individuals of about the same age, a study found. Using mice, researchers showed that this loss of lean body mass occurred…
The U.S. Food and Drug Administration (FDA) has granted priority review to Reata Pharmaceuticals’ omaveloxolone, an investigational once-daily oral therapy for Friedreich’s ataxia. If approved, omaveloxolone would become the first therapy available for the treatment of the disease in the U.S. The decision comes following the company rounding…
A researcher in Australia has received $250,000 from the Friedreich’s Ataxia Research Alliance (FARA) to use stem cells to understand the mechanisms behind the progressive loss of proprioception — the perception of the body’s position and movement — in people with Friedreich’s ataxia (FA). The two-year grant was…
Exicure is drawing to a close its XCUR-FXN program for the treatment of Friedreich’s ataxia for an unknown period of time, the company announced. The decision comes after an internal investigation concluded that data from the program’s preclinical phase would not support steps into a clinical trial, planned…
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